IFT81 (intraflagellar transport 81)

2003-12-01  

Identity

HGNC
IFT81
LOCATION
12q24.11
LOCUSID
28981
ALIAS
CDV-1,CDV-1R,CDV1,CDV1R,DV1,SRTD19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 28981
MIM: 605489
HGNC: 14313
Ensembl: ENSG00000122970

Variants:

dbSNP: 28981
ClinVar: 28981
TCGA: ENSG00000122970
COSMIC: IFT81

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122970ENST00000242591Q8WYA0
ENSG00000122970ENST00000242591A0A024RBJ1
ENSG00000122970ENST00000546374F8W1J4
ENSG00000122970ENST00000550156H0YHE2
ENSG00000122970ENST00000551273H0YIR4
ENSG00000122970ENST00000552912Q8WYA0
ENSG00000122970ENST00000552912A0A024RBJ1

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
348886422022Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.14
348886422022Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.14
327833572020Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.2
327833572020Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.2
300809532018Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.10
300809532018Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.10
284600502017IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.9
284600502017IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.9
239905612013Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.169
239905612013Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.169
125498212002Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation.2
125498212002Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation.2

Citation

Dessen P

IFT81 (intraflagellar transport 81)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40042